J.A. van Essen (Anthonie)http://repub.eur.nl/ppl/4423/
List of Publicationsenhttp://repub.eur.nl/eur_signature.pnghttp://repub.eur.nl/
RePub, Erasmus University RepositoryPericonceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: A population based case-control studyhttp://repub.eur.nl/pub/64513/
Fri, 01 Nov 2013 00:00:01 GMT<div>A.M. Rozendaal</div><div>J.A. van Essen</div><div>G. te Meerman</div><div>M.K. Bakker</div><div>J.J. van der Biezen</div><div>S.M. Goorhuis-Brouwer</div><div>C. Vermeij-Keers</div><div>H.E.K. de Walle</div>
Periconceptional folic acid has been associated with a reduced risk of neural tube defects, but findings on its effect in oral clefts are largely inconclusive. This case-control study assesses the effects of periconceptional folic acid on cleft risk, using complementary data from the Dutch Oral Cleft Registry and a population-based birth defects registry (Eurocat) of children and foetuses born in the Northern Netherlands between 1997 and 2009. Cases were live-born infants with non-syndromic clefts (n = 367) and controls were infants or foetuses with chromosomal/syndromal (n = 924) or non-folate related anomalies (n = 2,021). We analyzed type/timing/duration of supplement use related to traditional cleft categories as well as to their timing (early/late embryonic periods) and underlying embryological processes (fusion/differentiation defects). Consistent supplement use during the aetiologically relevant period (weeks 0-12 postconception) was associated with an increased risk of clefts (adjusted odds ratio 1.72, 95 % confidence interval 1.19-2.49), especially of cleft lip/alveolus (3.16, 1.69-5.91). Further analysis systematically showed twofold to threefold increased risks for late differentiation defects - mainly clefts of the lip/alveolus - with no significant associations for early/late fusion defects. Effects were attributable to folic acid and not to other multivitamin components, and inclusion of partial use (not covering the complete aetiologically relevant period) generally weakened associations. In conclusion, this study presents several lines of evidence indicating that periconceptional folic acid in the Northern Netherlands is associated with an increased risk of clefts, in particular of cleft lip/alveolus. This association is strengthened by the specificity, consistency, systematic pattern, and duration of exposure-response relationship of our findings, underlining the need to evaluate public health strategies regarding folic acid and to further investigate potential adverse effects.Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophyhttp://repub.eur.nl/pub/60087/
Tue, 05 Jul 2011 00:00:01 GMT<div>S.M. Schade Van Westrum</div><div>E.M. Hoogerwaard</div><div>L.R.C. Dekker</div><div>T.S. Standaar</div><div>E. Bakker</div><div>E.F. Ippel</div><div>J.C. Oosterwijk</div><div>D.F. Majoor-Krakauer</div><div>J.A. van Essen</div><div>N.J. Leschot</div><div>A.A.M. Wilde</div><div>R.J. de Haan</div><div>M. de Visser</div><div>A.J. Kooj</div>
Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers. Methods: A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer. Results: Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic. Conclusion: Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD. CopyrightThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF geneshttp://repub.eur.nl/pub/20845/
Wed, 01 Sep 2010 00:00:01 GMT<div>A.D.C. Paulussen</div><div>C.T.R.M. Schrander-Stumpel</div><div>D.C.J. Tserpelis</div><div>M.K.M. Spee</div><div>A.P.A. Stegmann</div><div>G.M.S. Mancini</div><div>A.S. Brooks</div><div>M. Colée</div><div>A.A. Maat-Kievit</div><div>M.E.H. Simon</div><div>Y. van Bever</div><div>I. Stolte-Dijkstra</div><div>W.S. Kerstjense-Frederikse</div><div>J.C. Herkert</div><div>J.A. van Essen</div><div>K.D. Lichtenbelt</div><div>A. van Haeringen</div><div>M.L. Kwee</div><div>A.M.A. Lachmeijer</div><div>G.M.B. Tan-Sindhunata</div><div>M.C. Maarle</div><div>Y.H.J.M. Arens</div><div>E.E.J.G.L. Smeets</div><div>C. de Die-Smulders</div><div>J.J.M. Engelen</div><div>H. Smeets</div><div>J. Herbergs</div>
Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The prevalence is 1:250 during early embryogenesis, the live-born prevalence is 1:16 000. The etiology of HPE is extremely heterogeneous and can be teratogenic or genetic. We screened four known HPE genes in a Dutch cohort of 86 non-syndromic HPE index cases, including 53 family members. We detected 21 mutations (24.4%), 3 in SHH, 9 in ZIC2 and 9 in SIX3. Eight mutations involved amino-acid substitutions, 7 ins/del mutations, 1 frame-shift, 3 identical poly-alanine tract expansions and 2 gene deletions. Pathogenicity of mutations was presumed based on de novo character, predicted non-functionality of mutated proteins, segregation of mutations with affected family-members or combinations of these features. Two mutations were reported previously. SNP array confirmed detected deletions; one spanning the ZIC2/ZIC5 genes (approx. 100 kb) the other a 1.45 Mb deletion including SIX2/SIX3 genes. The mutation percentage (24%) is comparable with previous reports, but we detected significantly less mutations in SHH: 3.5 vs 10.7% (P=0.043) and significantly more in SIX3: 10.5 vs 4.3% (P=0.018). For TGIF1 and ZIC2 mutation the rate was in conformity with earlier reports. About half of the mutations were de novo, one was a germ line mosaic. The familial mutations displayed extensive heterogeneity in clinical manifestation. Of seven familial index patients only two parental carriers showed minor HPE signs, five were completely asymptomatic. Therefore, each novel mutation should be considered as a risk factor for clinically manifest HPE, with the caveat of reduced clinical penetrance.Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasiahttp://repub.eur.nl/pub/30081/
Sun, 01 Jun 2008 00:00:01 GMT<div>A.H. van der Hout</div><div>G.G. Oudesluijs</div><div>A. Venema</div><div>J.B. Verheij</div><div>B.G.J. Mol</div><div>P. Rump</div><div>H. Brunner</div><div>Y.J. Vos</div><div>J.A. van Essen</div>
Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes. X-linked and autosomal forms are sometimes clinically indistinguishable. For genetic counseling in families, it is therefore important to know the gene involved. In 24 of 42 unrelated patients with features of HED, we found a mutation in ED1. ED1-negative patients were screened for mutations in EDAR and EDARADD. We found mutations in EDAR in 5 of these 18 patients. One mutation, p.Glu354X, is novel. In EDARADD, a novel variant p.Ser93Phe, probably a neutral polymorphism, was also found. Clinically, there was a difference between autosomal dominant and autosomal recessive HED patients. The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED. Patients with autosomal dominant HED had features comparable to those of female carriers of X-linked HED. The teeth of these patients were quite severely affected. Hypohidrosis and sparse hair were also evident, but less severe. This study confirms Chassaing et al's earlier finding that mutations in EDAR account for approximately 25% of non-ED1-related HED. Mutations leading to a premature stop codon have a recessive effect except when the stop codon is in the last exon. Heterozygous missense mutations in the functional domains of the gene may have a dominant-negative effect with much variation in expression. Patients with homozygous or compound heterozygous mutations in the EDAR gene have a more severe phenotype than those with a heterozygous missense, nonsense or frame-shift mutation.Validation and application of intravascular ultrasound in endovascular treatment of abdominal aortic aneurysmhttp://repub.eur.nl/pub/20892/
Wed, 28 Jun 2000 00:00:01 GMT<div>J.A. van Essen</div>
An abdominal aortic aneurysm (AAA) is a localized and permanent
dilatation of the aorta that presents a clear danger for the patient because of
the risk of rupture. The chance of rupture increases with the size of the
aneurysm. Mortality after rupture is high: 60-70% of patients with a
ruptured AAA will not reach the hospital alive. Furthermore, surgical
treatment of ruptured AAA carries an additional mortality of 45-55%.
Because of the poor prognosis of ruptured AAA, prophylactic exclusion of
AAA is performed for AAA larger than 5.0 to 5.5 cm in diameter. The
standard way of treating AAA is by elective open surgery. In this procedure,
the diseased aortic segment is opened after proximal and distal cleaning of
the vessel and the contents of the aneurysm are removed. A synthetic
prosthesis is placed inside the aneurysm. The proximal and distal ends of
the prosthesis are anastomosed via continuous sutures to the normal aorta
and/or iliac arteries, after which the aneurysm wall is closed around the
prosthesis. Elective surgery itself carries a mortality of 5_7% ,patients
aged over 70 years, patients with congestive heart failure, cardiac ischemia,
preexistent dysrythmia, renal impairment or pulmonary impairment are
known to have an increased mortality.High rate of mosaicism in tuberous sclerosis complexhttp://repub.eur.nl/pub/57454/
Wed, 01 Dec 1999 00:00:01 GMT<div>S. Verhoef</div><div>L. Bakker</div><div>A. Tempelaars</div><div>A.L. Hesseling-Janssen</div><div>T. Mazurczak</div><div>S. Jozwiak</div><div>A. Fois</div><div>G. Bartalini</div><div>B.A. Zonnenberg</div><div>J.A. van Essen</div><div>D. Lindhout</div><div>D.J.J. Halley</div><div>A.M.W. van den Ouweland</div>
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophyhttp://repub.eur.nl/pub/62283/
Thu, 01 Jul 1999 00:00:01 GMT<div>E.M. Hoogerwaard</div><div>P.A. van der Wouw</div><div>A.A.M. Wilde</div><div>E. Bakker</div><div>E.F. Ippel</div><div>J.C. Oosterwijk</div><div>D.F. Majoor-Krakauer</div><div>J.A. van Essen</div><div>N.J. Leschot</div><div>M. de Visser</div>
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: A cohort studyhttp://repub.eur.nl/pub/55678/
Wed, 16 Jun 1999 00:00:01 GMT<div>E.M. Hoogerwaard</div><div>E. Bakker</div><div>E.F. Ippel</div><div>J.C. Oosterwijk</div><div>D.F. Majoor-Krakauer</div><div>N.J. Leschot</div><div>J.A. van Essen</div><div>H.G. Brunner</div><div>P.A. van der Wouw</div><div>A.A.M. Wilde</div><div>M. de Visser</div>
Intravascular ultrasound evidence for coarctation causing symptomatic renal artery stenosishttp://repub.eur.nl/pub/9119/
Fri, 01 Jan 1999 00:00:01 GMT<div>T.C. Leertouwer</div><div>E.J. Gussenhoven</div><div>L.C. van Dijk</div><div>J.A. van Essen</div><div>J. Honkoop</div><div>J. Deinum</div><div>P.M.T. Pattynama</div>
BACKGROUND: A recent study of human cadaveric renal arteries revealed that
renal artery narrowing could be due not only to atherosclerotic plaque
compensated for by adaptive remodeling, but also to hitherto undescribed
focal narrowing of an otherwise normal renal arterial wall (ie,
coarctation). The present study investigated whether vessel coarctation
could be identified in patients with symptomatic renal artery stenosis
(RAS). METHODS AND RESULTS: Consecutive symptomatic patients with
angiographically proven atherosclerotic RAS who were referred for stent
placement were studied by 30-MHz intravascular ultrasound before
intervention (n=18) or after predilatation (n=18). Analysis included
assessment of the media-bounded area and plaque area (PLA) at the most
stenotic site and at a distal reference site (most distal cross-section in
the main renal artery with normal appearance). Coarctation was considered
present whenever the target/reference media-bounded area was </=85%.
Before intervention, coarctation was observed in 9 of 18 patients and
adaptive remodeling in 9 of 18 patients. Coarctation lesions had a
significantly smaller PLA than adaptive remodeled lesions (P=0.001).
Similarly, despite predilatation, coarctation was seen in 8 of 18 patients
who had significantly smaller PLAs (P=0. 008) when compared with those
patients who had adaptive remodeled lesions. No differences in severity of
RAS or angiographic or clinical parameters were observed. CONCLUSIONS:
Low-plaque coarctation may cause a considerable proportion of symptomatic
RAS, which is angiographically and clinically indistinguishable from
plaque-rich RAS.The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlandshttp://repub.eur.nl/pub/65755/
Tue, 01 Oct 1996 00:00:01 GMT<div>A.J. Kooj</div><div>P.G. Barth</div><div>H.F.M. Busch</div><div>R.J. de Haan</div><div>I.B. Ginjaar</div><div>J.A. van Essen</div><div>L.J.M.A. van Hooff</div><div>C.J. Höweler</div><div>F.G.I. Jennekens</div><div>P. Jongen</div><div>H.J.G.H. Oosterhuis</div><div>B. Padberg</div><div>F. Spaans</div><div>A.R. Wintzen</div><div>J.H.J. Wokke</div><div>E. Bakker</div><div>G.J. van Ommen</div><div>P.A. Bolhuis</div><div>M. de Visser</div>